N153K (p.Asn153Lys) variant of C9ORF72 (Q96LT7)
N153K (p.Asn153Lys) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
N153K (p.Asn153Lys) variant details
- p.Asn153Lys
- TOPMed rs1206413759
- gnomAD rs1206413759
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.01
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available